ClinVar Miner

List of variants in gene AP1S2 reported by Ambry Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001272071.2(AP1S2):c.288T>C (p.Ser96=) rs61741688 0.01485
NM_001272071.2(AP1S2):c.289-8C>T rs770199415 0.00016
NM_001272071.2(AP1S2):c.*1C>T rs1016898604 0.00001
NM_001272071.2(AP1S2):c.112G>A (p.Val38Ile)
NM_001272071.2(AP1S2):c.160C>G (p.Leu54Val)
NM_001272071.2(AP1S2):c.68C>G (p.Ser23Ter)

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